18º Congresso Brasileiro de Neurologia Infantil

Dados do Trabalho



Apresentação do caso

ASP, male, epilepsy onset at 2 years, waking and sleeping, focal seizure semiology, with ocular supraversion or lateralization, limb hypertonia, and cephalic deviation. He evolved with language and cognitive delay, with no family history of neurological diseases. At 8 years of age, he came to the service reporting generalized seizures 1 month ago,with maintenance of focal seizures, aura with right eye pain, using low-dose of sodium valproate and clobazam. Gradual dose adjustment with no response, change to Carbamazepine and discontinuation of use due to drowsiness. Changes in neurological examination: difficulty in gaze fixation, divergent strabismus mainly in the right eye. EEG: temporo-occipital paroxysms on the right. CBT: cortico-subcortical hypodensity, in occipital and posterior parietal region to the right. By genetics: intellectual deficit due to epileptic cause. Recent EEG: asymmetrical posterior dominant rhythm and slowed D, slowing and abundant epileptiform activity in right temporo-parieto-occipital region, confirming structural hypothesis. Skull MRI revealed prominent right occipital lobe with gyral simplification (pachygyria). Oxcarbamazepine started at last visit for better tolerability.


Facing a picture of early refractory epilepsy and global developmental delay (epileptic encephalopathy), with focal seizures, we should question the hypothesis of cortical developmental malformation. The patient had a right posterior dysplasia (pachygyria), a cortical malformation in which neuronal migration is abnormal. The aura and seizure semiology indicated the location of the lesion, as the most common non-visual symptom in occipital epilepsies is the ocular version. Orbital pain is characteristic of parietal spreading. EEG with sustained slowing in the posterior region ratified the hypothesis, confirmed with imaging. It is important to identify the ictal onset and classify the crisis for best therapy. Anticrisis drugs (ACF) should be chosen according to the semiology and if there is refractoriness, surgical evaluation is required.

Comentários finais

It is important that neuropediatricians are able to evaluate the possibility of a cortical developmental malformation in cases of refractory epilepsies where treatment with CAF has already been directed to the seizure semiology. Focal seizure semiology and EEG with synchronous focal change suggest investigation of structural epilepsy. Thus, imaging should be requested directing to the hypothesis and localization.

Palavras Chave

Cortical malformation; structural epilepsy.

Declaração de conflito de interesses de TODOS os autores

Não há conflito de interesse.


Malformações do sistema nervoso central


IPPMG / UFRJ - Rio de Janeiro - Brasil


Ana Paula Bastos Nogueira de Luca, Aline Chacon Pereira, Hanid Fontes Gomes , Sarah Falcão Brasileiro Henriques, Jéssica Kayene Souza Ferreira, Maria Mariana Muniz Jorge de Melo,, Fernanda dos Santos Ribeiro, Sofia Russi, Patrícia Selestrini